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Tissue-specific significance of BAP1 gene mutation in prognostic prediction and molecular taxonomy among different types of cancer.

Abstract BAP1 is an emerging tumor suppressor whose inactivating mutations have been found to play critical roles in tumor development. This study was conducted to elucidate the potential value of BAP1 mutation in guiding prognostic prediction and clinical stratification. We conducted a comprehensive analysis of relevant studies from multiple databases, to determine the impact of BAP1 mutation on the overall survival and disease-free survival of patients in various cancers. A total of 2457 patients from 21 studies were included in the final analysis. Although the pooled results demonstrated that BAP1 mutation was a negative indicator of overall survival (hazard ratio = 1.73; 95% confidence interval = 1.23-2.42) and disease-free survival (hazard ratio = 2.25; 95% confidence interval = 1.47-3.45), this prognostic value was only applicable to uveal melanoma and clear cell renal cell carcinoma, but not to malignant pleural mesothelioma or cholangiocarcinoma. Consistently, BAP1 mutation was correlated with critical clinicopathological features only in uveal melanoma and clear cell renal cell carcinoma. In uveal melanoma, BAP1 mutation and SF3B1/EIF1AX mutations were negatively correlated, and BAP1-mutant tumors indicated significant worse prognosis than SF3B1/EIF1AX-mutant tumors ( p = 0.028). While in clear cell renal cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and BAP1-mutant clear cell renal cell carcinomas also showed significantly worse prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p = 0.001). Our study revealed a unique tissue-specific significance of BAP1 mutation in prognostic prediction among different types of cancer. Clinically, combining detection of BAP1 mutation and other driver mutations may further allow for a more precise molecular taxonomy to stratify patients into distinct subgroups in uveal melanoma and clear cell renal cell carcinoma.
PMID
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Authors

Mayor MeshTerms

Prognosis

Keywords

BAP1

cancer

meta-analysis

molecular classification

mutation

prognosis

Journal Title tumour biology : the journal of the international society for oncodevelopmental biology and medicine
Publication Year Start




PMID- 28618948
OWN - NLM
STAT- MEDLINE
DA  - 20170616
DCOM- 20170705
LR  - 20170705
IS  - 1423-0380 (Electronic)
IS  - 1010-4283 (Linking)
VI  - 39
IP  - 6
DP  - 2017 Jun
TI  - Tissue-specific significance of BAP1 gene mutation in prognostic prediction and
      molecular taxonomy among different types of cancer.
PG  - 1010428317699111
LID - 10.1177/1010428317699111 [doi]
AB  - BAP1 is an emerging tumor suppressor whose inactivating mutations have been found
      to play critical roles in tumor development. This study was conducted to
      elucidate the potential value of BAP1 mutation in guiding prognostic prediction
      and clinical stratification. We conducted a comprehensive analysis of relevant
      studies from multiple databases, to determine the impact of BAP1 mutation on the 
      overall survival and disease-free survival of patients in various cancers. A
      total of 2457 patients from 21 studies were included in the final analysis.
      Although the pooled results demonstrated that BAP1 mutation was a negative
      indicator of overall survival (hazard ratio = 1.73; 95% confidence interval =
      1.23-2.42) and disease-free survival (hazard ratio = 2.25; 95% confidence
      interval = 1.47-3.45), this prognostic value was only applicable to uveal
      melanoma and clear cell renal cell carcinoma, but not to malignant pleural
      mesothelioma or cholangiocarcinoma. Consistently, BAP1 mutation was correlated
      with critical clinicopathological features only in uveal melanoma and clear cell 
      renal cell carcinoma. In uveal melanoma, BAP1 mutation and SF3B1/EIF1AX mutations
      were negatively correlated, and BAP1-mutant tumors indicated significant worse
      prognosis than SF3B1/EIF1AX-mutant tumors ( p = 0.028). While in clear cell renal
      cell carcinoma, BAP1 mutation was mutually exclusive with PBRM1 mutations, and
      BAP1-mutant clear cell renal cell carcinomas also showed significantly worse
      prognosis than PBRM1-mutant clear cell renal cell carcinomas ( p = 0.001). Our
      study revealed a unique tissue-specific significance of BAP1 mutation in
      prognostic prediction among different types of cancer. Clinically, combining
      detection of BAP1 mutation and other driver mutations may further allow for a
      more precise molecular taxonomy to stratify patients into distinct subgroups in
      uveal melanoma and clear cell renal cell carcinoma.
FAU - Wang, Xiang-Yu
AU  - Wang XY
AD  - 1 Department of General Surgery, Huashan Hospital, Fudan University, Shanghai,
      China.
FAU - Wang, Zheng
AU  - Wang Z
AD  - 1 Department of General Surgery, Huashan Hospital, Fudan University, Shanghai,
      China.
FAU - Huang, Jian-Bo
AU  - Huang JB
AD  - 1 Department of General Surgery, Huashan Hospital, Fudan University, Shanghai,
      China.
FAU - Ren, Xu-Dong
AU  - Ren XD
AD  - 1 Department of General Surgery, Huashan Hospital, Fudan University, Shanghai,
      China.
FAU - Ye, Dan
AU  - Ye D
AD  - 1 Department of General Surgery, Huashan Hospital, Fudan University, Shanghai,
      China.
AD  - 2 Molecular and Cell Biology Lab, Institute of Biomedical Sciences, Shanghai
      Medical College, Fudan University, Shanghai, China.
FAU - Zhu, Wen-Wei
AU  - Zhu WW
AD  - 1 Department of General Surgery, Huashan Hospital, Fudan University, Shanghai,
      China.
FAU - Qin, Lun-Xiu
AU  - Qin LX
AD  - 1 Department of General Surgery, Huashan Hospital, Fudan University, Shanghai,
      China.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Tumour Biol
JT  - Tumour biology : the journal of the International Society for Oncodevelopmental
      Biology and Medicine
JID - 8409922
RN  - 0 (Tumor Suppressor Proteins)
RN  - EC 3.1.2.15 (BAP1 protein, human)
RN  - EC 3.4.19.12 (Ubiquitin Thiolesterase)
RN  - Uveal melanoma
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Carcinoma, Renal Cell/*genetics/pathology
MH  - Disease-Free Survival
MH  - Female
MH  - Humans
MH  - Male
MH  - Melanoma/*genetics/pathology
MH  - Middle Aged
MH  - Mutation
MH  - Organ Specificity
MH  - *Prognosis
MH  - Tumor Suppressor Proteins/*genetics
MH  - Ubiquitin Thiolesterase/*genetics
MH  - Uveal Neoplasms/*genetics/pathology
OTO - NOTNLM
OT  - BAP1
OT  - cancer
OT  - meta-analysis
OT  - molecular classification
OT  - mutation
OT  - prognosis
EDAT- 2017/06/18 06:00
MHDA- 2017/06/18 06:00
CRDT- 2017/06/17 06:00
AID - 10.1177/1010428317699111 [doi]
PST - ppublish
SO  - Tumour Biol. 2017 Jun;39(6):1010428317699111. doi: 10.1177/1010428317699111.